Linked Data
dbSNP Id:
rs7341475
gnomAD v2:
7-103404815-G-A
gnomAD v3:
7-103764368-G-A
gnomAD v4:
7-103764368-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103764368G>A , CM000669.2:g.103764368G>A | GRCh38 |
| NC_000007.13:g.103404815G>A , CM000669.1:g.103404815G>A | GRCh37 |
| NC_000007.12:g.103192051G>A | NCBI36 |
| NG_011877.1:g.230149C>T | |
| NG_011877.2:g.230149C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424685.3:c.545-11154C>T | ENSP00000388446.3:n.545-11154C>T | |
| ENST00000428762.6:c.545-11154C>T MANE Select | ENSP00000392423.1:n.545-11154C>T | |
| ENST00000473457.2:n.809-11154C>T | ||
| ENST00000679867.1:n.429-11154C>T | ||
| ENST00000680712.1:n.359-11154C>T | ||
| ENST00000681034.1:c.545-11154C>T | ENSP00000506075.1:n.545-11154C>T | |
| ENST00000681401.1:n.821-11154C>T | ||
| ENST00000681931.1:n.429-11154C>T | ||
| ENST00000343529.9:c.545-11154C>T | ENSP00000345694.5:n.545-11154C>T | |
| ENST00000424685.2:c.545-11154C>T | ENSP00000388446.2:n.545-11154C>T | |
| ENST00000428762.5:c.545-11154C>T | ENSP00000392423.1:n.545-11154C>T | |
| NM_005045.3:c.545-11154C>T | NP_005036.2:n.545-11154C>T | |
| NM_173054.2:c.545-11154C>T | NP_774959.1:n.545-11154C>T | |
| NM_005045.4:c.545-11154C>T MANE Select | NP_005036.2:n.545-11154C>T | |
| NM_173054.3:c.545-11154C>T | NP_774959.1:n.545-11154C>T |